Title : Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.

Pub. Date : 2019 May

PMID : 31191204






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 TRPV4, a nonselective calcium permeable ion channel, is expressed broadly in many organs including bone and neurons. Calcium transient receptor potential cation channel subfamily V member 4 Homo sapiens